ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.6863G>A (p.Arg2288His) (rs1135401774)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg RCV000496193 SCV000586718 uncertain significance ATR-X syndrome 2017-08-01 criteria provided, single submitter clinical testing Missense variant in ATRX identified in a male, 16 mo with hypotonia, severe developmental delay, renal anomalies, normal head circumference. The variant was inherited from the healthy mother who had a XI of 86%. The missense variant c.6863G>A, p.(Arg2288His) in ATRX is located downstream of the two functional domains harboring approximately 80% of mutations but affects a highly conserved amino acid. Pathogenic relevance might be confirmed by determining Hb inclusion bodies in erythrocytes.

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